1. "CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557‐2566, 2014. (5th May 2015) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. "Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu‐Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome" Am J Med Genet. 161:518–526, 2013. Issue 10 (17th September 2013) Authors: Narumi, Yoko; Min, Byung‐Joo; Shimizu, Kenji; Kazukawa, Itsuro; Sameshima, Kiyoko; Nakamura, Koichi; Kosho, Tomoki; Rhee, Yumie; Chung, Yoon‐Sok; Kim, Ok‐Hwa; Fukushima, Yoshimitsu; Park, Woong‐Yang; Nishimura, Gen Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. "I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia. Issue 8 (6th May 2016) Authors: Beard, Catherine A.; Amor, David J.; Di Pietro, Louisa; Archibald, Alison D. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2052 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. "If it helps …" the use of microarray technology in prenatal testing: Patient and partners reflections. Issue 7 (21st May 2013) Authors: Hillman, Sarah C.; Skelton, John; Quinlan‐Jones, Elizabeth; Wilson, Amie; Kilby, Mark D. Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. "It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result. Issue 11 (13th July 2016) Authors: Wilkins, Ella J.; Archibald, Alison D.; Sahhar, Margaret A.; White, Susan M. Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. "It's about having the choice": Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome1. Issue 1 (13th December 2012) Authors: Archibald, Alison D.; Hickerton, Chriselle L.; Jaques, Alice M.; Wake, Samantha; Cohen, Jonathan; Metcalfe, Sylvia A. Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". Issue 2 (11th December 2017) Authors: Abdalla, Ebtesam; El‐Beheiry, Ahmed; Dieterich, Klaus; Thevenon, Julien; Fauré, Julien; Rendu, John Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: Expanding the phenotype1. Issue 1 (14th December 2012) Authors: Luquetti, Daniela V.; Hing, Anne V.; Rieder, Mark J.; Nickerson, Deborah A.; Turner, Emily H.; Smith, Joshua; Park, Sarah; Cunningham, Michael L. Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. "Minimal" holoprosencephaly in a 14q deletion syndrome patient. Issue 12 (14th November 2017) Authors: Della Giustina, Elvio; Iodice, Alessandro; Spagnoli, Carlotta; Giovannini, Simona; Frattini, Daniele; Fusco, Carlo; Gobbi, Giuseppe; Zollino, Marcella; Neri, Giovanni Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. "They Can't Find Anything Wrong with Him, Yet": Mothers' experiences of parenting an infant with a prenatally diagnosed copy number variant (CNV). Issue 2 (7th November 2016) Authors: Werner‐Lin, Allison; Walser, Sarah; Barg, Frances K.; Bernhardt, Barbara A. Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 444 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗